Diseases & Conditions


Apert Syndrome

Synonyms of Apert Syndrome
  • Acrocephalosyndactyly, Type I
  • ACS1
  • ACS I
  • Syndactylic Oxycephaly

Disorder Subdivisions

    General Discussion
    Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present.

    Among babies born with Apert syndrome, the fibrous joints between bones of the skull (sutures) close prematurely (craniosynostosis). The pressure of continued brain growth distorts various bones of the skull and the face. The skull is forced into one of several characteristic shapes. Often the head appears abnormally pointed at the top (acrocephaly). The distortion of the skull plates create changes in the facial bones leading to characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate).

    Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail (mitten-like syndactyly).

    In almost all instances, Apert syndrome results from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In rare cases, the disorder may be inherited as an autosomal dominant trait.

    Organizations related to Apert Syndrome
    • AboutFace International
      123 Edward St
      Ontario None M5G 1E2
      Phone #: 416-597-2229
      800 #: 800-665-3223
      e-mail: [email protected]
      Home page: http://www.aboutfaceinternational.org
    • AmeriFace
      PO Box 751112
      Las Vegas NV 89136
      Phone #: 702-769-9264
      800 #: 888-486-1209
      e-mail: [email protected]
      Home page: http://www.ameriface.org
    • American Heart Association
      National Center
      Dallas TX 75231-4596
      Phone #: 214-373-6300
      800 #: 800-242-8721
      e-mail: [email protected]
      Home page: http://www.americanheart.org
    • Apert Support and Information Network
      P.O. Box 1184
      Fair Oaks CA 95628
      Phone #: 916-961-1092
      800 #: --
      e-mail: [email protected]
      Home page: http://www.apert.org
    • Apert Syndrome Support Group
      8708 Kathy
      St. Louis MO 63126
      Phone #: 314-965-3356
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Children's Craniofacial Association
      13140 Coit Road
      Dallas TX 75240
      Phone #: 214-570-9099
      800 #: 800-535-3643
      e-mail: [email protected]
      Home page: http://www.ccakids.com
    • Congenital Heart Anomalies, Support, Education, & Resources
      2112 North Wilkins Road
      Swanton OH 43558
      Phone #: 419-825-5575
      800 #: --
      e-mail: [email protected]
      Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
    • Craniofacial Foundation of America
      975 East Third Street
      Chattanooga TN 37403
      Phone #: 423-778-9192
      800 #: 800-418-3223
      e-mail: [email protected]
      Home page: http://www.craniofacialcenter.com
    • Danish Apert Syndrome Association (Danmarks Apertforening)
      Dronningeengen 17
      Vedbaek Intl DK-2950
      Phone #: +45- 45-89 0300
      800 #: --
      e-mail: [email protected]
      Home page: N/A
    • FACES: The National Craniofacial Association
      P.O. Box 11082
      Chattanooga TN 37401
      Phone #: 423-266-1632
      800 #: 800-332-2373
      e-mail: [email protected]
      Home page: http://www.faces-cranio.org
    • Forward Face, Inc.
      317 East 34th Street
      New York NY 10016
      Phone #: 212-684-5860
      800 #: 800-393-3223
      e-mail: [email protected]
      Home page: http://www.forwardface.org
    • Headlines - Craniofacial Support
      128 Beesmoor Road
      Bristol Intl BS36 2JP
      Phone #: 44--014-54-850557
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.headlines.org.uk
    • Let's Face It (USA)
      P.O. Box 29972
      Bellingham WA 98228-1972
      Phone #: 360-676-7325
      800 #: --
      e-mail: [email protected]
      Home page: http://www.dent.umich.edu/faceit
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: [email protected]
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.madisonsfoundation.org
    • National Craniofacial Foundation
      3100 Carlisle Street
      Dallas TX 75204
      Phone #: --
      800 #: 800-535-3643
      e-mail: N/A
      Home page: N/A
    • National Foundation for Facial Reconstruction
      317 East 34th St.
      New York NY 10016
      Phone #: 212-263-6656
      800 #: 800-422-3223
      e-mail: [email protected]
      Home page: http://www.nffr.org
    • Sj?ldne Diagnoser / Rare Disorders Denmark
      Frederiksholms Kanal 2, 3rd Floor
      Copenhagen K None 1220
      Phone #: 45 -33 -14 00 10
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.raredisorders.dk
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: [email protected]
      Home page: http://www.thearc.org/
    • University of Virginia Craniofacial Anomalies Clinic
      Department of Plastic Surgery
      Charlottesville VA 22908
      Phone #: 804-924-5068
      800 #: 800-251-3627
      e-mail: [email protected]
      Home page: N/A

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html